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The genetic architecture of type 2 diabetes
Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R. B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, Nigel W. Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernández Tajes, Heather M. Highland, Josée Dupuis, Peter S. Chines, Cecilia M. Lindgren, Christopher Hartl, Anne Jackson, Han Chen, Jeroen R. Huyghe, Martijn van de Bunt, Richard D. Pearson, Ashish Kumar, Martina Müller‐Nurasyid, Niels Grarup, Heather M. Stringham, Eric R. Gamazon, Jaehoon Lee, Yuhui Chen, Robert A. Scott, Jennifer E. Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L. Stitzel, Dorota Pasko, Stephen C.J. Parker, Tibor V. Varga, Todd Green, Nicola L. Beer, Aaron Day-Williams, Teresa Ferreira, Tasha E. Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, M. Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min‐Seok Kwon, Juyoung Lee, Selyeong Lee, Keng‐Han Lin, Taylor J. Maxwell, Yoshihiko Nagai, Xu Wang, Ryan Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F. Voight, Bok‐Ghee Han, Christopher P. Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa K. Manning, Maggie C. Y. Ng, Beverley Balkau, Alena Stančáková, Hanna E. Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, Jason Carey, Phoenix Kwan, George Grant, Joshua D. Smith, Benjamin M. Neale, Shaun Purcell, Adam S. Butterworth, Joanna M. M. Howson, Heung Man Lee, Yingchang Lu, Soo‐Heon Kwak, Wei Zhao, John Danesh, Vincent K. Lam, Kyong Soo Park, Danish Saleheen, Wing Yee So, Claudia H.T. Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching‐Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E. Curran, Denis Rybin, Vidya S. Farook, Sharon P. Fowler, Barry I. Freedman, Michael Griswold, Daniel E. Hale, Chiea Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothée Thuillier, Wei Yen Lim, Jianjun Liu, Yvonne T. van der Schouw, Marie Loh, Solomon K. Musani, Sobha Puppala, William R. Scott, Loïc Yengo, Herman A. Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pål R. Njølstad, J Lévy, Massimo Mangino, Lori L. Bonnycastle, Thomas Schwarzmayr, João Fadista, Gabriela Surdulescu, Christian Herder, Christopher J. Groves, Thomas Wieland, Jette Bork‐Jensen, Ivan Brandslund, Cramer Christensen, Heikki A. Koistinen, Alex S. F. Doney, Leena Kinnunen, Tõnu Esko, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravić, Valeriya Lyssenko, Mette Hollensted, Marit E. Jørgensen, Torben Jørgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Käräjämäki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt J. Neville, Marju Orho‐Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy J. Swift, Anders H. Rosengren, Kathleen Stirrups, Andrew R. Wood, Evelin Mihailov, Christine Blancher, Mauricio O. Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy R. Fennell, Mark A. DePristo, Martin Hrabě de Angelis, Panos Deloukas, Anette P. Gjesing, Goo Jun, Peter M. Nilsson, Jacquelyn Murphy, Robert C. Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, Frank B. Hu, Bo Isomaa, Fredrik Karpe, Liming Liang, Annette Peters, Cornelia Huth, Stephen O’Rahilly, Oluf Pedersen, Rainer Rauramaa, Jaakko Tuomilehto, Veikko Salomaa, Richard M. Watanabe, Ann‐Christine Syvänen, Richard N. Bergman, Dwaipayan Bharadwaj, Erwin P. Böttinger, Yoon Shin Cho, Giriraj R. Chandak, Juliana C.N. Chan, Kee Seng Chia, Mark J. Daly, Shah B. Ebrahim, Claudia Langenberg, Paul Elliott, Kathleen A. Jablonski, Donna M. Lehman, Weiping Jia, Ronald C.W., Toni I. Pollin, Manjinder S. Sandhu, Nikhil Tandon, Philippe Froguel, Inês Barroso, Yik Ying Teo, Eleftheria Zeggini, Ruth J. F. Loos, Kerrin S. Small, Janina S. Ried, Ralph A. DeFronzo, Harald Grallert, Benjamin Gläser, Andres Metspalu, Nicholas J. Wareham, Mark Walker, Eric Banks, Christian Gieger, Erik Ingelsson, Hae Kyung Im, Thomas Illig, Paul W. Franks, Gemma Buck, Joseph Trakalo, David Buck, Inga Prokopenko, Reedik Mägi, Lars Lind, Yossi Farjoun, Katharine R. Owen, Anna L. Gloyn, Konstantin Strauch, Jaspal S. Kooner, Jong‐Young Lee, Taesung Park, Peter Donnelly, Andrew D. Morris, Andrew T. Hattersley, Donald W. Bowden, Francis S. Collins, Gil Atzmon, John C. Chambers, Timothy D. Spector, Markku Laakso, Tim M. Strom, Graeme I. Bell, John Blangero, Ravindranath Duggirala, E Shyong Tai, Gilean McVean, Craig L. Hanis, James G. Wilson, Mark Seielstad, Timothy M. Frayling, James B. Meigs, Nancy J. Cox, Robert Sladek, Eric S. Lander, Stacey Gabriel, Noël P. Burtt, Karen L. Mohlke, Thomas Meitinger, Leif Groop, Gonçalo R. Abecasis, José C. Florez, Laura J. Scott, Andrew P. Morris, Hyun Min Kang, Michael Boehnke, David Altshuler, Mark I. McCarthy
Bibliographic record
VenueNature · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University Health CentreMcGill UniversityMcGill University and Génome Québec Innovation Centre
FundersNational Institute on Minority Health and Health DisparitiesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNovo Nordisk FondenMedical Research CouncilNational Institute of General Medical SciencesNational Institute for Health and Care ResearchNovo NordiskCanadian Institutes of Health ResearchNational Institutes of HealthLundbeckfondenNational Cancer InstituteBritish Heart FoundationNational Human Genome Research InstituteWellcome TrustNational Institute on AgingBristol-Myers Squibb
KeywordsGenetic associationGeneticsGenetic architectureBiologyGenome-wide association studyGenotypingExomeType 2 diabetesExome sequencingMinor allele frequencyImputation (statistics)HeritabilityDNA sequencingMissing heritability problemWhole genome sequencingAllele frequencySingle-nucleotide polymorphismGenomeAlleleGeneQuantitative trait locusMutationGenotypeDiabetes mellitusMissing data
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.008
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.004
GPT teacher head0.237
Teacher spread0.233 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations1,112
Published2016
Admission routes2
Has abstractno